Associated Papers
Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.
Zhou YY et al.
Frontiers in Genetics, 2022
35464846 (PubMed )
Supplement: Table1.xlsx › DX1515_20D2319547R
Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.
Ma H et al.
Cancer Biomarkers : Section a of Disease Markers, 2020
31958074 (PubMed )
Supplement: sj-xlsx-1-cbm-10.3233_cbm-190236.xlsx › Somatic
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
Genome bioinformatic analysis of nonsynonymous SNPs.
Burke DF et al.
Bmc Bioinformatics, 2007
A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3.
Yamada Y et al.
Human Mutation, 2001
Erythrocyte amp deaminase deficiency in Japanese: a compound heterozygote responsible for the complete deficiency.
Yamada Y et al.
Advances in Experimental Medicine and Biology, 2000
Gene mutations responsible for human erythrocyte AMP deaminase deficiency in Poles.
Yamada Y et al.
Advances in Experimental Medicine and Biology, 1998
Characterization of the human AMPD3 gene reveals that 5' exon useage is subject to transcriptional control by three tandem promoters and alternative splicing.
Mahnke-Zizelman DK et al.
Biochimica Et Biophysica Acta, 1996
Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations.
Yamada Y et al.
Human Molecular Genetics, 1994
Gene mutations for human erythrocyte AMP deaminase deficiency.
Yamada Y et al.
Advances in Experimental Medicine and Biology, 1994
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